|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor II (thrombin) receptor-like 1|
|Synonyms||proteinase-activated receptor-2, PAR-2, Par2, Gpcr11, Protease-activated receptor-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8281 (G1)|
|Chromosomal Location||95511732-95525227 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 95514077 bp|
|Amino Acid Change||Leucine to Proline at position 99 (L99P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022185]|
|Predicted Effect||probably damaging
AA Change: L99P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L99P
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]
PHENOTYPE: Nullizygous mice may exhibit impaired leukocyte rolling and dendritic cell maturation, altered inflammatory response in various models of acute and chronic inflammatory disease, altered susceptibility to injury and to autoimmune disorders, and abnormal hemodynamic responses and pain thresholds. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F2rl1||
(F):5'- CCAATGAGCACCTTGCACAG -3'
(R):5'- ATCTCAGTAATGATTCTGCTCCGC -3'
(F):5'- CTTGCACAGGGCCTCCC -3'
(R):5'- CTTTCTTTGTACAGGACGCAACAAC -3'